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ONTOLOGY REPORT - ANNOTATIONS


Term:Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
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Accession:DOID:9002151 term browser browse the term
Synonyms:exact_synonym: AMME Complex;   ATS-MR;   CHROMOSOME Xq22.3 TELOMERIC DELETION SYNDROME
 primary_id: MESH:C564570;   RDO:0013489
 alt_id: OMIM:300194
For additional species annotation, visit the Alliance of Genome Resources.


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Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a6 collagen type IV alpha 6 chain JBrowse link X 112,405,647 112,768,337 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14096
      hematopoietic system disease 1376
        hereditary elliptocytosis 8
          Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14096
      nervous system disease 9148
        central nervous system disease 6948
          brain disease 6452
            disease of mental health 4334
              developmental disorder of mental health 2608
                specific developmental disorder 1771
                  intellectual disability 1599
                    Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.